早发性卵巢功能不全遗传学病因及管理策略研究进展  

Study progress in genetic causes and management strategies for premature ovarian insufficiency

作　　者：韩英琦 高煜琪 黄军霞 陈晓彤 孙振高[3] HAN Yingqi;GAO Yuqi;HUANG Junxia;CHEN Xiaotong;SUN Zhengao(Master Degree Candidate of Traditional Chinese Gynecology Enrolled in 2021,the School of Acupuncture and Tuina,Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong,China;Master Degree Candidate of Traditional Chinese Gynecology Enrolled in 2021,the First School of Clinical Medicine,Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong,China;Department of Reproduction and Genetics,the Affiliated Hospital of Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong,China)

机构地区：[1]山东中医药大学针灸推拿学院,济南250014 [2]山东中医药大学第一临床学院,济南250014 [3]山东中医药大学附属医院生殖与遗传科,济南250014

出　　处：《中国性科学》2024年第10期52-56,共5页Chinese Journal of Human Sexuality

基　　金：国家自然科学基金项目(82274572);山东省自然科学基金中医药联合基金培育项目(ZR2021LZY026);山东省自然科学基金中医药联合基金培育项目(ZR2022LZY009)。

摘　　要：早发性卵巢功能不全(POI)的特征为女性在40岁之前卵巢功能减退、早衰、激素水平紊乱,是导致女性不孕的主要原因之一。POI具体病因尚不完全明确,目前临床认为包括遗传性、自身免疫性、感染性或医源性等因素。其中,遗传性病因占所有患者的20%~25%。确定POI精确致病基因一直具有挑战性,且已知的致病基因在POI致病机制中也未完全阐明,而了解潜在分子机制对预防和早期诊断POI至关重要。因此,本文就POI遗传学研究进展对目前已知的POI致病基因和针对致病基因的治疗方法作一综述。Premature ovarian insufficiency(POI),characterized by reduced ovarian function,early aging,and hormonal imbalance in women before the age of 40,is one of the leading causes of female infertility.The specific etiology of POI is not yet fully understood,and clinically it is considered to include genetic,autoimmune,infectious,or iatrogenic factors.Among them,genetic causes account for 20%to 25%of all cases.Identifying the precise pathogenic genes for POI has always been challenging,and the pathogenic mechanisms of the known genes have not been fully elucidated.Understanding the underlying molecular mechanisms is crucial for the prevention and early diagnosis of POI.Therefore,this article provides a review of the study progress in the current known pathogenic genes and the therapeutic methods targeting the pathogenic genes.

关 键 词：早发性卵巢功能不全 卵巢早衰 基因突变 

分 类 号：R711[医药卫生—妇产科学]